Genes that escape from X-chromosome inactivation and sexual dimorphism of systemic lupus erythematosus.

X chromosome inactivation can balance the effects of the two X chromosomes in females, and emerging evidence indicates that numerous genes on the inactivated X chromosome have the potential to evade inactivation. The mechanisms of escape include modification of DNA, RNA, histone, epitope, and various regulatory proteins, as well as the spatial structure of chromatin. The study of X chromosome inactivation escape has paved the way for investigating sex dimorphism in human diseases, particularly autoimmune diseases. It has been demonstrated that the presence of TLR7, CD40L, IRAK-1, CXCR3, and CXorf21 significantly contributes to the prevalence of SLE (systemic lupus erythematosus) in females. This article mainly reviews the molecular mechanisms underlying these genes that escape from X-chromosome inactivation and sexual dimorphism of systemic lupus erythematosus. Therefore, elucidating the molecular mechanisms underlying sexual dimorphism in SLE is not only crucial for diagnosing and treating the disease, but also holds theoretical significance in comprehensively understanding the development and regulatory mechanisms of the human immune system.

Relationship between pathogenic microorganisms and the occurrence of esophageal carcinoma based on pathological type: a narrative review.

INTRODUCTION: Esophageal cancer (EC) is one of the most common malignant tumors of the upper gastrointestinal tract. The etiology of EC is complicated and increasing evidence has shown that microbial infection is closely related to the occurrence of various malignant tumors. Though many studies have been focused on this subject in recent years, the exact relationship between microbial infection and the occurrence of EC remains unclear. AREAS COVERED: In this review, we searched all eligible literature reports, summarized the most recent studies in this research field, and analyzed the pathogenic microorganisms associated with EC, providing the latest evidence and references for the prevention of pathogenic microorganism-related EC. EXPERT OPINION: In recent years, increasing evidence has shown that pathogenic microbial infections are closely associated with the development of EC. Therefore, it is necessary to describe in detail the relationship between microbial infection and EC and clarify its possible pathogenic mechanism, which will shed a light on clinical prevention and treatment of cancer caused by pathogenic microbial infection.

Corrigendum to "miR-183-5p Is a Potential Molecular Marker of Systemic Lupus Erythematosus".

[This corrects the article DOI: 10.1155/2021/5547635.].

miR-183-5p Is a Potential Molecular Marker of Systemic Lupus Erythematosus.

OBJECTIVE: To investigate microRNA (miRNA) expression profiles in individuals with systemic lupus erythematosus (SLE) and identify the valuable miRNA biomarkers in diagnosing and monitoring SLE. METHODS: Next-generation sequencing (NGS) was performed to assess miRNA amounts in peripheral blood mononuclear cells (PBMCs) from four SLE cases and four healthy controls. Quantitative polymerase chain reaction (qPCR) was carried out for validating candidate miRNAs in 32 SLE cases and 32 healthy controls. In addition, receiver operating characteristic (ROC) curve analysis was completed to evaluate diagnostic performance. Finally, the associations of candidate miRNAs with various characteristics of SLE were analyzed. RESULTS: A total of 157 miRNAs were upregulated, and 110 miRNAs were downregulated in PBMCs from SLE cases in comparison to healthy controls, of which the increase of miR-183-5p and decrease of miR-374b-3p were validated by qPCR and both showed good diagnostic performance for SLE diagnosis. Besides, miR-183-5p expression levels displayed a positive association with SLE disease activity index (SLEDAI) and anti-dsDNA antibody amounts. CONCLUSION: Our data indicated that miR-183-5p is a promising biomarker of SLE.

Association Between C1q, TRAIL, and Tim-1 Gene Polymorphisms and Systemic Lupus Erythematosus.

AIM: The present study was designed to examine the relationship between gene polymorphisms of C1q, tumor necrosis factor-related apoptosis-inducing ligand (TRAIL), T cell immunoglobulin mucin (Tim-1), and systemic lupus erythematosus (SLE). MATERIALS AND METHODS: A total of 245 SLE patients were selected from February 2012 to August 2016, along with 245 healthy donors as the control group. Genomic DNA was extracted from peripheral blood samples from all subjects followed by mutational analyses. Gene polymorphisms of the C1q gene (rs292001, rs631090, rs294223 loci); the TRAIL gene (1525A/G, 1588A/G, 1595T/C locus); and the Tim-1 gene were detected by sequencing after polymerase chain reaction amplification. The concentration of anti-C1q antibody and the protein levels of sTRAIL/Tim-1 in serum of all subjects were measured by enzyme-linked immunosorbent assay. RESULTS: As for the C1q gene, the frequency of the T allele at the rs631090 locus in the study group was lower than that in the controls, and the frequency of the C allele was higher in the study group than in the healthy donors. The frequency of the G allele at the 1525A/G locus of TRAIL gene in the study group was significantly higher than those in the control group. The frequency of the G allele at -1454G/A of Tim-1 was dramatically higher in the study group than in the control group. Anti-C1q antibody concentrations of subjects carrying CC and CT genotype at the rs631090 locus were statistically higher than TT genotype carriers. The sTRAIL protein level of the TRAIL 1525A/G GG genotype carriers was significantly higher than that of GA and AA genotype carriers, as well as CC genotype carriers at 1595T/C site compared with CT/TT genotype carriers. GG genotype carriers at -1454G/A had higher Tim-1 expression levels than GA/AA genotype carriers. CONCLUSION: The C allele at the rs631090 locus of C1q, the G allele at 1525A/G site of TRAIL, and the G allele of Tim-1 at -1454G/A site are susceptibility variants associated with SLE.

Dickkopf-1 Is a Biomarker for Systemic Lupus Erythematosus and Active Lupus Nephritis.

An early diagnosis of lupus nephritis (LN) has an important clinical implication in guiding treatments of systemic lupus erythematosus (SLE) in clinical settings. In this study, the concentrations of Wnt-3A, Frizzled-8 (FZD-8), and Dickkopf-1 (DKK-1) of Wnt signaling, as well as their diagnostic values for accessing LN, were evaluated by ELISA in sera and urine of 111 SLE patients (31 with LN and 80 without LN) and 70 healthy cohorts. Significantly more abundances of DKK-1 protein were determined in both of sera and urine of SLE patients compared to healthy cohorts (p < 0.0001); in particular the serum DKK-1 concentration was even higher in LN-SLE patients relative to non-LN SLE subjects (p < 0.0001). Intriguingly, concentrations of above examined proteins in SLE patients showed no correlation between serum and urine. Moreover, a combination of DKK-1 with anti-dsDNA and/or levels of complement C3 and C4 could not increase the specificity and/or sensitivity for identification of patients with LN diseases, but both ROC curve and multiple-factor nonconditional logistic regression analysis showed that serum DKK-1 was considered better positive biomarker for identification of LN in SLE patients. These results imply that serum and/or urine DKK-1 may be a valuable and independent biomarker for identification of SLE patients with LN.

Correlation of Serum Soluble Interleukin-7 Receptor and Anti-C1q Antibody in Patients with Systemic Lupus Erythematosus.

Background. Serum concentrations of soluble interleukin-7 receptor (sIL-7R) and anti-C1q antibody have recently been identified as unique serological markers for lupus nephritis (LN) in patients with systemic lupus erythematosus (SLE). In this study, we evaluated the correlation of serum sIL-7R and anti-C1q in SLE patients. Methods. Sera from 134 patients with SLE and 84 healthy cohorts were tested for levels of sIL-7R and anti-C1q antibodies in terms of ELISA. Correlations of the sIL-7R and anti-C1q autoantibodies were evaluated. Results. The serum concentrations of sIL-7R and anti-C1q antibodies were significantly higher in SLE patients and LN patients in comparison with healthy individuals/controls and SLE patients with non-LN, respectively. In addition, both sIL-7R and anti-C1q concentrations were found to significantly correlate with the SLE disease activity as evaluated by SLEDAI scores. Interestingly, the serum sIL-7R concentration was strongly correlated with the level of anti-C1q antibodies (r = 0.2871, p = 0.0008) but not statistically correlated with other serological markers, including the anti-dsDNA and complements C3 and C4 concentrations in SLE patients. Conclusion. Both serum sIL-7R and anti-C1q antibodies were strongly associated with disease activity and LN in SLE patients, suggesting that they may be reliable serological markers for identification of SLE patients with active diseases and LN.